TERT promoter mutations

Last revised by Dr Calum Worsley on 23 Oct 2022

TERT promoter mutations affect the TERT promoter (located on the short arm of chromosome 5) which encodes for the hTERT component of telomerase, an enzyme that maintains and lengthens telomeres 1. Mutations that result in enhanced activity of telomerase, and therefore longer telomeres, can be is seen in over 50 different cancers throughout the body, including oligodendroglioma, follicular carcinomas of the thyroid, malignant melanoma, bladder transitional cell carcinoma, and hepatocellular carcinoma 2,3,5

In the 5th Edition of the WHO classification of CNS tumors (2021), TERT promoter mutation was included as one of a range of molecular criteria for the diagnosis of glioblastoma, IDH-wildtype 6.

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